10481[HGNC] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	ALDH1L1, ALDH1L1-AS1 +484 more	Copy number gain	See cases	GUncertain significance
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	ARMC8, ASTE1 +345 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 57831	GRCh38/hg38 3q22.1-22.3(chr3:132972567-136894498)x1	AMOTL2, ANAPC13 +102 more	Copy number loss	See cases	GPathogenic
Select item 2532297	NM_002958.4(RYK):c.1563C>G (p.Ser521Arg)	RYK (S521R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783406	NM_002958.4(RYK):c.1391A>G (p.Lys464Arg)	RYK (K464R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2654162	NM_002958.4(RYK):c.1015+6T>G	RYK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2363166	NM_002958.4(RYK):c.973A>C (p.Ile325Leu)	RYK (I328L +1 more)	Single nucleotide variant (missense variant)	RYK-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3055004	NM_002958.4(RYK):c.939T>C (p.Leu313=)	RYK	Single nucleotide variant (synonymous variant)	RYK-related condition	GLikely benign
Select item 2402059	NM_002958.4(RYK):c.935C>G (p.Thr312Ser)	RYK (T315S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2632542	NM_002958.4(RYK):c.817C>T (p.Leu273=)	RYK	Single nucleotide variant (synonymous variant)	RYK-related condition	GUncertain significance
Select item 3048026	NM_002958.4(RYK):c.575A>G (p.Lys192Arg)	RYK (K192R)	Single nucleotide variant (missense variant)	RYK-related condition	GLikely benign
Select item 718403	NM_002958.4(RYK):c.552C>T (p.Thr184=)	RYK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2584555	NM_002958.4(RYK):c.355-4703C>G	RYK	Single nucleotide variant (intron variant)	Orofacial cleft 1	GUncertain significance
Select item 786021	NM_002958.4(RYK):c.233-4C>G	RYK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2268034	NM_002958.4(RYK):c.155C>G (p.Pro52Arg)	RYK (P52R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781973	NM_002958.4(RYK):c.151C>T (p.Arg51Trp)	RYK (R51W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3034688	NM_002958.4(RYK):c.149C>T (p.Pro50Leu)	RYK (P50L)	Single nucleotide variant (missense variant)	RYK-related condition	GLikely benign
Select item 3048012	NM_002958.4(RYK):c.147C>T (p.Ala49=)	RYK	Single nucleotide variant (synonymous variant)	RYK-related condition	GBenign
Select item 780896	NM_002958.4(RYK):c.71CGC[7] (p.Pro27_Pro28dup)	RYK	Microsatellite (inframe_insertion)	RYK-related condition +1 more	GBenign
Select item 779997	NM_002958.4(RYK):c.61del (p.Gly20_Leu21insTer)	RYK	Deletion (nonsense)	not provided	GBenign
Select item 767934	NM_002958.4(RYK):c.61= (p.Leu21=)	RYK	Variation (no sequence alteration)	not provided	GBenign
Select item 218478	NM_002958.4(RYK):c.10dup (p.Ala4fs)	RYK (A4fs)	Duplication (frameshift variant)	not specified +1 more	GBenign
Select item 779998	NM_002958.4(RYK):c.10del (p.Ala4fs)	RYK (A4fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 767935	NM_002958.4(RYK):c.10= (p.Ala4=)	RYK	Variation (no sequence alteration)	not provided	GBenign
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1183990	Single allele	ACAD11, ACAD9 +61 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 523199	GRCh37/hg19 3q22.1-22.3(chr3:132642704-136360844)x1	EPHB1, KY +17 more	Copy number loss	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 34